Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Pro838Leu (p.P838L)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Pro838Gln (p.P838Q) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg783His (p.R783H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala100Ser (p.A100S) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Ala100Thr (p.A100T) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Pro838Leu (p.P838L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Pro838Gln (p.P838Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg783His (p.R783H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala100Ser (p.A100S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala100Thr (p.A100T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- restrictive cardiomyopathy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.125362824093149
- Year of publication
- NA
Drugs